Canonical Allele Identifier: CA2568767

Gene: ILDR1

Linked Data

• dbSNP Id: rs753262737
• ExAC: 3:121712551 G / T
• gnomAD v2: 3-121712551-G-T
• gnomAD v4: 3-121993704-G-T
• MyVariant Identifiers: chr3:g.121712551G>T (hg19) ; chr3:g.121993704G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.121993704G>T , CM000665.2:g.121993704G>T	GRCh38
NC_000003.11:g.121712551G>T , CM000665.1:g.121712551G>T	GRCh37
NC_000003.10:g.123195241G>T	NCBI36
NG_031870.1:g.33577C>A
NG_031870.2:g.71851C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344209.10:c.1045C>A MANE Select	ENSP00000345667.5:p.Leu349Met
ENST00000460554.2:n.995C>A
ENST00000642615.1:c.*228C>A	ENSP00000495499.1:n.*228C>A
ENST00000273691.7:c.913C>A	ENSP00000273691.3:p.Leu305Met
ENST00000344209.9:c.1045C>A	ENSP00000345667.5:p.Leu349Met
ENST00000393631.5:c.778C>A	ENSP00000377251.1:p.Leu260Met
ENST00000460554.1:n.1147C>A
ENST00000462014.1:c.949C>A	ENSP00000419414.1:p.Leu317Met
NM_001199799.1:c.1045C>A	NP_001186728.1:p.Leu349Met
NM_001199800.1:c.778C>A	NP_001186729.1:p.Leu260Met
NM_175924.3:c.913C>A	NP_787120.1:p.Leu305Met
XM_005247389.3:c.949C>A	XP_005247446.1:p.Leu317Met
XM_011512738.1:c.1045C>A	XP_011511040.1:p.Leu349Met
XM_011512739.1:c.508C>A	XP_011511041.1:p.Leu170Met
XM_005247389.4:c.949C>A	XP_005247446.1:p.Leu317Met
XM_011512738.2:c.1045C>A	XP_011511040.1:p.Leu349Met
XM_011512739.2:c.508C>A	XP_011511041.1:p.Leu170Met
NM_001199799.2:c.1045C>A MANE Select	NP_001186728.1:p.Leu349Met
NM_001199800.2:c.778C>A	NP_001186729.1:p.Leu260Met
NM_175924.4:c.913C>A	NP_787120.1:p.Leu305Met